AutismKB 2.0

Annotation Detail for NIPA1


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Basic Information Top
Gene Symbol:NIPA1 ( FSP3,MGC102724,MGC35570,SPG6 )
Gene Full Name: non imprinted in Prader-Willi/Angelman syndrome 1
Band: 15q11.2
Quick LinksEntrez ID:123606; OMIM: 608145; Uniprot ID:NIPA1_HUMAN; ENSEMBL ID: ENSG00000170113; HGNC ID: 17043
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of NIPA1 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of NIPA1 mRNAincreases expression 19482888
C006253 pirinixic acid pirinixic acid results in increased expression of NIPA1 mRNAincreases expression 18301758
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 4.326195326
MESH:D055371 Acute Lung Injury pirinixic acid 3.7218653653
MESH:D018248 Adenoma, Liver Cell Phenobarbital 13.3017620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 13.3016434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.7019483382
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 1.9517173139 6705139 20007298 20935162 1701930
MESH:D002493 Central Nervous System Diseases Phenobarbital 5.024080065
MESH:D002779 Cholestasis pirinixic acid 3.1919176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.6118249437
MESH:D004421 Dystonia Phenobarbital 4.611851702
MESH:D004487 Edema pirinixic acid 3.0212083418
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.873659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.943922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.1020417680
MESH:D004832 Epilepsy, Absence Phenobarbital 4.016401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 5.027750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.903659116
MESH:D005234 Fatty Liver pirinixic acid 3.3119236843 20131406
MESH:D006333 Heart Failure pirinixic acid 2.8120558911
MESH:D006529 Hepatomegaly Phenobarbital 11.1616109766
MESH:D006529 Hepatomegaly pirinixic acid 11.1618467677 16221962 19176532 19772884
MESH:D006943 Hyperglycemia pirinixic acid 3.6920558911
MESH:D007333 Insulin Resistance pirinixic acid 2.9316306350
MESH:D008103 Liver Cirrhosis Phenobarbital 3.1221047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Phenobarbital 2.2519363144
MESH:D008113 Liver Neoplasms Phenobarbital 4.9519812893 21047994 19073162 8742319 19482888 15975961
MESH:D008113 Liver Neoplasms pirinixic acid 4.9520007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.9718308698 17172636 2563599 1399818 6150874
MESH:D009135 Muscular Diseases pirinixic acid 4.2716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.3019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.3316411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.3617484760
MESH:D009369 Neoplasms pirinixic acid 2.1417405874
MESH:D009765 Obesity pirinixic acid 1.9020558911
MESH:D010018 Osteomalacia Phenobarbital 5.2517016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.6216965848
MESH:D011230 Precancerous Conditions Phenobarbital 4.092563599
MESH:D019310 Pseudolymphoma Phenobarbital 5.5612752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.5819058328
MESH:D012640 Seizures Phenobarbital 3.0116876388 3137016 4039156 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 5.716407741
MESH:C536866 Spastic paraplegia 6, autosomal dominant marker/mechanism
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.431399818
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134967361
    • No data
    Releated disease ID Related disease Name
    PA446460Angelman Syndrome
    No data
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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